Scoliosis Clinic and the Department of Human
We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The
The purpose of this study was to evaluate the mid-term outcomes of autologous matrix-induced chondrogenesis (AMIC) for the treatment of larger cartilage lesions and deformity correction in hips suffering from symptomatic femoroacetabular impingement (FAI). This single-centre study focused on a cohort of 24 patients with cam- or pincer-type FAI, full-thickness femoral or acetabular chondral lesions, or osteochondral lesions ≥ 2 cm2, who underwent surgical hip dislocation for FAI correction in combination with AMIC between March 2009 and February 2016. Baseline data were retrospectively obtained from patient files. Mid-term outcomes were prospectively collected at a follow-up in 2020: cartilage repair tissue quality was evaluated by MRI using the Magnetic Resonance Observation of Cartilage Repair Tissue (MOCART) score. Patient-reported outcome measures (PROMs) included the Oxford Hip Score (OHS) and Core Outcome Measure Index (COMI). Clinical examination included range of motion, impingement tests, and pain.Aims
Methods
1. We have described here various forms of rickets and osteomalacia that we have studied ourselves and have come to recognise as comprising definite syndromes. We have included only diseases in which hereditary factors have been proved or might be suspected to play a part. 2. There are more of these syndromes than previously defined. 3. All these hereditary diseases can be treated, usually very satisfactorily, using the same general principles and with only very few simple medicines such as vitamin D and sodium bicarbonate. Careful control and long follow-up, however, may be required to achieve best results and to avoid accidents. 4. A study of the
It has been known for well over a century that the corresponding ossification centres of the hand tend to appear before those of the foot (Mall 1906), although even now the range of variability remains poorly defined. Presumably a similar asynchrony also obtains for chondrification, although precise timing is more difficult here than for ossification. Accordingly, it is tempting with respect to this syndrome to relate fusions restricted to the phalanges of the hand and to the tarsal bones to the action of a gene which during a very limited period of development exerts an effect on those small bones of the hand and foot which are in a very specific stage of development. But since there are other inherited abnormalities of the skeleton, such as brachydactyly, where homologous bones are involved, it is clear that at the descriptive level gene action can either appear to be "stage-specific" or "homologue-specific." There are also mutations affecting the axial skeleton such as the type of polydactyly of the foot described by Neel and Rusk (1963) which appear to be neither "stage" nor "homologue" specific, involving only the foot. Finally then, there are syndromes, such as Lawrence-Moon-Biedl-Bardot, in which involvement of the hands and feet (polydactyly) is associated with such other apparently completely unrelated defects as retinitis pigmentosa and hypogonadism. While it is tempting to try to construct theoretical patterns and systems of developmental processes on the basis of results such as these, it is clear that the ultimate understanding of how genes can appear to act in so many ways almost certainly depends on the identification of a genetically controlled, qualitative or quantitative biochemical lesion. With the current parallel developments in biochemical and developmental
The purpose of this study was to use pharmacogenetics to determine the frequency of genetic variants in our total knee arthroplasty (TKA) patients that could affect postoperative pain medications. Pharmacogenetic testing evaluates patient DNA to determine if a drug is expected to have a normal clinical effect, heightened effect, or no effect at all on the patient. It also predicts whether patients are likely to experience side effects from medicine. We further sought to determine if changing the multimodal programme based on these results would improve pain control or reduce side effects. In this pilot study, buccal samples were collected from 31 primary TKA patients. Pharmacogenetics testing examined genetic variants in genes Aims
Methods
The aim of this study was to investigate the changes in femoral
trochlear morphology following surgical correction of recurrent
patellar dislocation associated with trochlear dysplasia in children. A total of 23 patients with a mean age of 9.6 years (7 to 11)
were included All had bilateral recurrent patellar dislocation associated
with femoral trochlear dysplasia. The knee with traumatic dislocation
at the time of presentation or that had dislocated most frequently
was treated with medial patellar retinacular plasty (Group S). The
contralateral knee served as a control and was treated conservatively
(Group C). All patients were treated between October 2008 and August
2013. The mean follow-up was 48.7 months (43 to 56). Axial CT scans
were undertaken in all patients to assess the trochlear morphological
characteristics on a particular axial image which was established
at the point with the greatest epicondylar width based on measurements
preoperatively and at the final follow-up.Aims
Patients and Methods
Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral
dysfunction as a key symptom. We present the first in-depth radiological
evaluation of the knee in a large series of NPS patients and describe
the typical malformations. Conventional radiological examination of 95 skeletally mature
patients with NPS was performed. Patellar morphology was classified
according to the Wiberg classification as modified by Baumgartl
and Ficat criteria, and trochlear shape was classified according
to the Dejour classification.Aim
Patients and Methods
Recently, there has been considerable interest in quantifying
the associations between bony abnormalities around and in the hip
joint and osteoarthritis (OA). Our aim was to investigate the relationships
between acetabular undercoverage, acetabular overcoverage, and femoroacetabular
impingement (FAI) with OA of the hip, which currently remain controversial. A total of 545 cadaveric skeletons (1090 hips) from the Hamann-Todd
osteological collection were obtained. Femoral head volume (FHV),
acetabular volume (AV), the FHV/AV ratio, acetabular version, alpha
angle and anterior femoral neck offset (AFNO) were measured. A validated
grading system was used to quantify OA of the hip as minimal, moderate,
or severe. Multiple linear and multinomial logistic regression were
used to determine the factors that correlated independently with
the FHV, AV, and the FHV/AV ratio. Aims
Materials and Methods
The aim of this study was to report the incidence
of arthrofibrosis of the knee and identify risk factors for its development
following a fracture of the tibial plateau. We carried out a retrospective
review of 186 patients (114 male, 72 female) with a fracture of
the tibial plateau who underwent open reduction and internal fixation.
Their mean age was 46.4 years (19 to 83) and the mean follow-up
was16.0 months (6 to 80). A total of 27 patients (14.5%) developed arthrofibrosis requiring
a further intervention. Using multivariate regression analysis,
the use of a provisional external fixator (odds ratio (OR) 4.63,
95% confidence interval (CI) 1.26 to 17.7, p = 0.021) was significantly
associated with the development of arthrofibrosis. Similarly, the
use of a continuous passive movement (CPM) machine was associated
with significantly less development of arthrofibrosis (OR = 0.32,
95% CI 0.11 to 0.83, p = 0.024). The effect of time in an external
fixator was found to be significant, with each extra day of external
fixation increasing the odds of requiring manipulation under anaesthesia
(MUA) or quadricepsplasty by 10% (ORÂ =Â 1.10, p = 0.030). High-energy
fracture, surgical approach, infection and use of tobacco were not
associated with the development of arthrofibrosis. Patients with
a successful MUA had significantly less time to MUA (mean 2.9 months; Based our results, CPM following operative fixation for a fracture
of the tibial plateau may reduce the risk of the development of
arthrofibrosis, particularly in patients who also undergo prolonged
provisional external fixation. Cite this article:
Invasive group A streptococcus (iGAS) is the most common cause of monomicrobial necrotising fasciitis. Necrotising infections of the extremities may present directly to orthopaedic surgeons or by reference from another admitting specialty. Recent epidemiological data from the Health Protection Agency suggest an increasing incidence of iGAS infection in England. Almost 40% of those affected had no predisposing illnesses or risk factors, and the proportion of children presenting with infections has risen. These observations have prompted the Chief Medical Officer for the Central Alerting System in England to write to general practitioners and hospitals, highlighting the need for clinical vigilance, early diagnosis and rapid initiation of treatment in suspected cases. The purpose of this annotation is to summarise the recent epidemiological trends, describe the presenting features and outline the current investigations and treatment of this rare but life-threatening condition.
We evaluated the top 13 journals in trauma and
orthopaedics by impact factor and looked at the longer-term effect regarding
citations of their papers. All 4951 papers published in these journals during 2007 and 2008
were reviewed and categorised by their type, subspecialty and super-specialty.
All citations indexed through Google Scholar were reviewed to establish
the rate of citation per paper at two, four and five years post-publication.
The top five journals published a total of 1986 papers. Only three
(0.15%) were on operative orthopaedic surgery and none were on trauma.
Most (n = 1084, 54.5%) were about experimental basic science. Surgical
papers had a lower rate of citation (2.18) at two years than basic science
or clinical medical papers (4.68). However, by four years the rates
were similar (26.57 for surgery, 30.35 for basic science/medical),
which suggests that there is a considerable time lag before clinical
surgical research has an impact. We conclude that high impact journals do not address clinical
research in surgery and when they do, there is a delay before such
papers are cited. We suggest that a rate of citation at five years
post-publication might be a more appropriate indicator of importance
for papers in our specialty. Cite this article:
The incidence of acute and chronic conditions
of the tendo Achillis appear to be increasing. Causation is multifactorial
but the role of inherited genetic elements and the influence of
environmental factors altering gene expression are increasingly
being recognised. Certain individuals’ tendons carry specific variations
of genetic sequence that may make them more susceptible to injury.
Alterations in the structure or relative amounts of the components
of tendon and fine control of activity within the extracellular
matrix affect the response of the tendon to loading with failure
in certain cases. This review summarises present knowledge of the influence of
genetic patterns on the pathology of the tendo Achillis, with a
focus on the possible biological mechanisms by which genetic factors
are involved in the aetiology of tendon pathology. Finally, we assess
potential future developments with both the opportunities and risks
that they may carry. Cite this article:
The most frequent cause of failure after total
hip replacement in all reported arthroplasty registries is peri-prosthetic
osteolysis. Osteolysis is an active biological process initiated
in response to wear debris. The eventual response to this process
is the activation of macrophages and loss of bone. Activation of macrophages initiates a complex biological cascade
resulting in the final common pathway of an increase in osteolytic
activity. The biological initiators, mechanisms for and regulation
of this process are beginning to be understood. This article explores current
concepts in the causes of, and underlying biological mechanism resulting
in peri-prosthetic osteolysis, reviewing the current basic science
and clinical literature surrounding the topic.
Giant cell tumours (GCT) of the synovium and
tendon sheath can be classified into two forms: localised (giant
cell tumour of the tendon sheath, or nodular tenosynovitis) and
diffuse (diffuse-type giant cell tumour or pigmented villonodular
synovitis). The former principally affects the small joints. It
presents as a solitary slow-growing tumour with a characteristic
appearance on MRI and is treated by surgical excision. There is
a significant risk of multiple recurrences with aggressive diffuse
disease. A multidisciplinary approach with dedicated MRI, histological assessment
and planned surgery with either adjuvant radiotherapy or systemic
targeted therapy is required to improve outcomes in recurrent and
refractory diffuse-type GCT. Although arthroscopic synovectomy through several portals has
been advocated as an alternative to arthrotomy, there is a significant
risk of inadequate excision and recurrence, particularly in the
posterior compartment of the knee. For local disease partial arthroscopic
synovectomy may be sufficient, at the risk of recurrence. For both
local and diffuse intra-articular disease open surgery is advised
for recurrent disease. Marginal excision with focal disease will
suffice, not dissimilar to the treatment of GCT of tendon sheath.
For recurrent and extra-articular soft-tissue disease adjuvant therapy,
including intra-articular radioactive colloid or moderate-dose external
beam radiotherapy, should be considered.
Given the growing prevalence of obesity around
the world and its association with osteoarthritis of the knee, orthopaedic
surgeons need to be familiar with the management of the obese patient
with degenerative knee pain. The precise mechanism by which obesity
leads to osteoarthritis remains unknown, but is likely to be due
to a combination of mechanical, humoral and genetic factors. Weight loss has clear medical benefits for the obese patient
and seems to be a logical way of relieving joint pain associated
with degenerative arthritis. There are a variety of ways in which
this may be done including diet and exercise, and treatment with
drugs and bariatric surgery. Whether substantial weight loss can
delay or even reverse the symptoms associated with osteoarthritis
remains to be seen. Surgery for osteoarthritis in the obese patient can be technically
more challenging and carries a risk of additional complications.
Substantial weight loss before undertaking total knee replacement
is advisable. More prospective studies that evaluate the effect
of significant weight loss on the evolution of symptomatic osteoarthritis
of the knee are needed so that orthopaedic surgeons can treat this
patient group appropriately.
The aim of this study was to investigate genetic influences on the development and progression of tears of the rotator cuff. From a group of siblings of patients with a tear of the rotator cuff and of controls studied five years earlier, we determined the prevalence of tears of the rotator cuff with and without associated symptoms using ultrasound and the Oxford Shoulder Score. In the five years since the previous assessment, three of 62 (4.8%) of the sibling group and one of the 68 (1.5%) controls had undergone shoulder surgery. These subjects were excluded from the follow-up. Full-thickness tears were found in 39 of 62 (62.9%) siblings and in 15 of 68 (22.1%) controls (p = 0.0001). The relative risk of full-thickness tears in siblings as opposed to controls was 2.85 (95% confidence interval (CI) 1.75 to 4.64), compared to 2.42 (95% CI 1.77 to 3.31) five years earlier. Full-thickness tears associated with pain were found in 30 of 39 (76.9%) tears in the siblings and in eight of 15 (53.3%) tears in the controls (p = 0.045). The relative risk of pain associated with a full-thickness tear in the siblings as opposed to the controls was 1.44 (95% CI 2.04 to 8.28) (p = 0.045). In the siblings group ten of 62 (16.1%) had progressed in terms of tear size or development compared to one of 68 (1.5%) in the control group which had increased in size. Full-thickness rotator cuff tears in siblings are significantly more likely to progress over a period of five years than in a control population. This implies that genetic factors have a role, not only in the development but also in the progression of full-thickness tears of the rotator cuff.
The management of osteoarthritis of the knee associated with patellar instability secondary to external tibial torsion >
45° is challenging. Patellofemoral biomechanics in these patients cannot be achieved by intra-articular correction using standard techniques of total knee replacement. We reviewed seven patients (eight knees) with recurrent patellar dislocation and one with bilateral irreducible lateral dislocation who had undergone simultaneous total knee replacement and internal tibial derotational osteotomy. All had osteoarthritis and severe external tibial torsion. The mean follow-up was for 47.2 months (24 to 120). The mean objective and functional Knee Society scores improved significantly (p = 0.0001) from 29.7 and 41.5 pre-operatively to 71.4 and 73.5 post-operatively, respectively. In all patients the osteotomies healed and patellar stability was restored. Excessive external tibial torsion should be identified and corrected in patients with osteoarthritis and patellar instability. Simultaneous internal rotation osteotomy of the tibia and total knee replacement is a technically demanding but effective treatment for such patients.
When using a staged approach to eradicate chronic infection after total hip replacement, systemic delivery of antibiotics after the first stage is often employed for an extended period of typically six weeks together with the use of an in situ antibiotic-eluting polymethylmethacrylate interval spacer. We report our multi-surgeon experience of 43 consecutive patients (44 hips) who received systemic vancomycin for two weeks in combination with a vancomycin- and gentamicin-eluting spacer system in the course of a two-stage revision procedure for deep infection with a median follow-up of 49 months (25 to 83). The antibiotic-eluting articulating spacers fractured in six hips (13.9%) and dislocated in five patients (11.6%). Successful elimination of the infecting organisms occurred in 38 (92.7%) of 41 hips with three patients developing superinfection with a new organism. We conclude that prolonged systemic antibiotic therapy may not be essential in the two-stage treatment of a total hip replacement for Gram-positive infection, provided that a high concentration of antibiotics is delivered locally using an antibiotic-eluting system.
Deep-seated lipomas are often atypical histologically and are considered by some to have a high risk of recurrence after excision. We reviewed 215 deep-seated lipomas of the extremities and trunk wall with reference to histology, cytogenetics, clinical features and local recurrence. We classified tumours with atypical features and/or ring chromosomes as atypical lipomas. These were more common in men, larger than ordinary lipomas and more often located in the upper leg. The annual incidence was estimated as ten per million inhabitants and the ratio of atypical to ordinary lipomas was 1:3. In total, six tumours (3%), recurred locally after a median of eight years (1 to 16); of these, four were classified as atypical. The low recurrence rate of deep-seated lipomas of the extremity or trunk wall, irrespective of histological subtype, implies that if surgery is indicated, the tumour may be shelled out, that atypical lipomas in these locations do not deserve the designation well-differentiated liposarcoma, and that routine review after surgery is not required.
Technological advances and shorter rescue times have allowed early and effective resuscitation after trauma and brought attention to the host response to injury. Trauma patients are at risk of progressive organ dysfunction from what appears to be an uncontrolled immune response. The availability of improved techniques of molecular diagnosis has allowed investigation of the role of genetic variations in the inflammatory response to post-traumatic complications and particularly to sepsis. This review examines the current evidence for the genetic predisposition to adverse outcome after trauma. While there is evidence supporting the involvement of different polymorphic variants of genes in determining the post-traumatic course and the development of complications, larger-scale studies are needed to improve the understanding of how genetic variability influences the responses to post-traumatic complications and pharmacotherapy.
The scoliosis observed in chickens after pinealectomy resembles that seen in humans with an adolescent idiopathic scoliosis, suggesting that melatonin deficiency may be responsible. However, to date there have been no studies of pineal gland glucose metabolism in patients with adolescent idiopathic scoliosis that might support this hypothesis. We examined the excretion of urinary 6-sulfatoxyl-melatonin as well as the glucose metabolism of the pineal gland in 14 patients with an adolescent idiopathic scoliosis and compared them with those of 13 gender-matched healthy controls using F-18 fluorodeoxyglucose brain positron emission tomography. There was no significant difference in the level of urinary 6-sulfatoxyl-melatonin or pineal gland metabolism between the study and the control group. We conclude that permanent melatonin deficiency is not a causative factor in the aetiology of adolescent idiopathic scoliosis.
We stably transfected early passage chondrocytes with an anti-apoptotic Bcl-2 gene We conclude that NO-induced chondrocyte death involves a mechanism which appears to be subject to regulation by an anti-apoptotic Bcl-2 gene. Therefore, Bcl-2 gene therapy may prove to be of therapeutic value in protecting human articular chondrocytes.
Treatment strategies for osteoarthritis most commonly involve the removal or replacement of damaged joint tissue. Relatively few treatments attempt to arrest, slow down or reverse the disease process. Such options include peri-articular osteotomy around the hip or knee, and treatment of femoro-acetabular impingement, where early intervention may potentially alter the natural history of the disease. A relatively small proportion of patients with osteoarthritis have a clear predisposing factor that is both suitable for modification and who present early enough for intervention to be deemed worthwhile. This paper reviews recent advances in our understanding of the pathology, imaging and progression of early osteoarthritis.